InnateDB Protein
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IDBP-245629.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CCDC50
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Protein Name
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coiled-coil domain containing 50
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000376249
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InnateDB Gene
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IDBG-69803 (CCDC50)
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Protein Structure
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Function |
Involved in EGFR signaling. {ECO:0000269PubMed:15314609}.
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Subcellular Localization |
Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus. {ECO:0000250}.
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Disease Associations |
Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453]: A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. {ECO:0000269PubMed:17503326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. {ECO:0000269PubMed:14527723}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IVM0
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PhosphoSite |
PhosphoSite-Q8IVM0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
152137
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UniGene |
Hs.608697
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RefSeq |
NP_777568
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HUGO |
HGNC:18111
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OMIM |
611051
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CCDS |
CCDS33913
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HPRD |
06463
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IMGT |
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EMBL |
AJ416916
AJ557013
BC065004
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GenPept |
AAH65004
CAC95196
CAD89526
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